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Epileptic encephalopathy

Gene: ALG11

Green List (high evidence)

ALG11 (ALG11, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 9 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Can present with epileptic encephalopathy
Created: 27 Sep 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ip 613661

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type Ip 613661
OMIM
613666
Clinvar variants
Variants in ALG11
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Sep 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ALG11 was created by arianna

27 Sep 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ALG11 was added to Epileptic encephalopathypanel. Sources: Other